Variant report

Variant	rs2373361
Chromosome Location	chr7:86571235-86571236
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86566998..86572829-chr7:86779731..86785521,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224046	Chromatin interaction
ENSG00000135164	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1014634	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232633	0.88[EUR][1000 genomes]
rs10236047	1.00[CEU][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes]
rs10236910	1.00[CEU][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes]
rs10257473	0.95[EUR][1000 genomes]
rs10258008	1.00[CEU][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes]
rs10263372	1.00[CEU][hapmap]
rs10267763	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271867	0.88[CEU][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11974622	1.00[CEU][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes]
rs11976876	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11979332	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11981220	1.00[CEU][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12111888	1.00[CEU][hapmap]
rs12113681	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476455	1.00[CEU][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1557665	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17161067	1.00[CEU][hapmap]
rs17161070	0.89[EUR][1000 genomes]
rs17161096	1.00[CEU][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes]
rs17161098	1.00[CEU][hapmap]
rs17161118	1.00[CEU][hapmap]
rs17697806	0.84[ASN][1000 genomes]
rs17697878	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17697894	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17765493	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299231	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2788868	0.85[CHB][hapmap]
rs28490267	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28583791	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28635668	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61082072	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6965029	1.00[CEU][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6972489	1.00[CEU][hapmap]
rs73382375	0.95[EUR][1000 genomes]
rs73382388	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73382401	0.90[EUR][1000 genomes]
rs73384105	0.90[EUR][1000 genomes]
rs7781782	1.00[CEU][hapmap]
rs7783745	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7808623	1.00[CEU][hapmap]
rs7810135	1.00[CEU][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9640574	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
7	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2373361	STEAP4	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86498400-86576200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:86518000-86577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:86521000-86576400	Weak transcription	Hela-S3	cervix
4	chr7:86527000-86577000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:86527200-86575800	Weak transcription	Left Ventricle	heart
6	chr7:86539200-86578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:86543400-86571400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:86551000-86576200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:86555000-86577000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:86561800-86578600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:86562200-86572800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:86563000-86578200	Weak transcription	HUVEC	blood vessel
13	chr7:86564400-86572400	Weak transcription	Fetal Heart	heart
14	chr7:86567600-86578600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:86567800-86576400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:86568200-86576200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:86568400-86576000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:86568800-86576400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:86569000-86571400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:86569000-86574200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:86569000-86576800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:86569200-86581400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:86569400-86571600	Weak transcription	K562	blood
24	chr7:86569400-86578600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:86570400-86573400	Enhancers	Brain Substantia Nigra	brain
26	chr7:86570600-86572200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr7:86570600-86572400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:86570600-86572600	Enhancers	Brain Anterior Caudate	brain
29	chr7:86570600-86573600	Enhancers	Brain Angular Gyrus	brain
30	chr7:86570800-86571400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:86571000-86571400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:86571000-86572000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:86571200-86571600	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:86571200-86572600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:86571200-86577200	Weak transcription	Adipose Nuclei	Adipose

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